Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.K382E

PGK1

251 papers

RefSeq Summary

The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alp...

Pfam Domains

PGKaa 9–406UCSCPhosphoglycerate kinase

Gene Aliases

HGNC Name

phosphoglycerate kinase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000291.4
p.K382E
c.1144A>G
Surrounding Variants
1 paper
NM_000291.4
p.A381V
c.1142C>T
22 papers
NM_000291.4
p.T378P
c.1132A>C
1 paper
NM_000291.4
p.S390I
c.1169G>T
1 paper
NM_000291.4
p.G372D
c.1115G>A
8 papers
NM_000291.4
p.T394A
c.1180A>G
1 paper
NM_000291.4
p.G405S
c.1213G>A
1 paper
NM_000291.4
p.G405Splc
c.1213+80A>G
1 paper
NM_000291.4
p.G405Splc
c.1213+92G>A
1 paper
NM_000291.4
p.G372D
c.1115G>A
3 papers
NM_000291.4
p.G372S
c.1114G>A
9 papers
NM_000291.4
p.I371K
c.1112T>A
3 papers
NM_000291.4
p.T369P
c.1105A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."